Background: Breast cancer (BC) is the most common cancer in women globally. In low- and middle-income countries, the use of appropriate breast cancer genetics services for screening and personalized treatments is severely lacking. This review is aimed to assess and summarize the reported mutation profiles of Malaysian BC patients.
Methods: A literature search was performed in PubMed and Google Scholar from 2002 to 2019 using a set of keywords and MESH terms.
Results: Data from 14 eligible studies are presented here. A total of 28 genes were studied in Malaysian BC patients in which 445 genetic alterations (229 deleterious, 209 variants with unknown clinical significance (VUC), and seven protective variants) have been reported, with 73 being novel (16% novel). The frequency ranged from 0.2% to 76% for VUC and 2.1 to 15% for deleterious variations. Only BRCA1, BRCA2, PALB2, APOBEC3B, and P53 have been associated with BC risk in Malaysian patients. Nine of these studies were conducted using the overlapped source of patients, which may limit the generalizability of the findings to the whole population of Malaysia.
Conclusion: Information on the genetic basis of BC in the Malaysian population is scant. Multidisciplinary efforts with appropriate sample selection techniques and study design with multicenter collaboration are needed to address this issue. Out of thirteen high- and moderated-penetrance pathogenic mutations for BC, only five have been linked to Malaysians’ BC susceptibility. The findings from this review is valuable for decision-makers, researchers, and physicians, to enhance the research plans and utility of genetic services for screening and prevention.
With the increasing ease of travel and the passage of peoples between counkies there is a need to ensure that the recipient country is not burdened by the need for care of ilniiiigrant with health problems as well as the increased risk posed to the local population froni exposure to conun~unicabled isease. To assess the chest radiographs of a selected group of inun~igrantsto ascertain the presence of abnormalities especially the presence of tuberculosis. A total of 250 imniigrants were prospectively evaluated by a PA chest radiograph. The chest radiograph was evaluated by two radiologists for the presence of abnormalities of the heart, lungs, mediastinum and bony rib cage. There were 112 Indonesians, 133 Bangladeshis, one Myanmar, three Pakistanis and one others. Males made-up 222 while there were 28 females. The chest radiograph was diagnostic in all cases. There were 13 cases with enlarged hearts but with no evidence of heart failure. There was only a single inlmigrant who had evidence of active TB though there were 6 others who had evidence of old disease. There was evidence of other infections in five. With regard to the mediastinuni there was a single case with enlarged hila probably secondary to increased cardiac output. There were 21 patients with scoliosis of the spine and two with abnormaIities of the ribs. Even though there was a single case with evidence of TB from this pilot study, from unreported data from the UMMC, there were 15,16 and 23 immigrants treated for TB for 1994,1995 and 1996 respectively. This was mainly seen in the Indonesians followed by the Bangladeshis and Myanmar. We attribute this discrepancy to the biased salnpie in this study where probably only the healthy were seen while those who were not well did not want to participate in this study. In addition, this may also be due to the small sample used in this study. We feel that screening of the immigrants out in the field may be able to detect cases of active TB. As for the large hearts we feel that in the absence of any cardiac symptoms and other radiological changes these are probably due to the increased workload on the heart from physical activities. This is a recognised presentation. The changes in the mediastinum and bony rib cage are probably not very significant.
A survey was done to assess the chest radiographs of a selected group of immigrants. The objective is to ascertain the rpesence of abnormalities especially the presence of tuberculosis. Five hundred and eleven (511) chest radiographs (PA view) were evaluated. majority of the chest radiographs were normal, except for 2 cases of hilar lymphadenopathy, 4 cases of scoliosis and cervical rib, an old case of fracture of the clavicle and a case of cardiomegaly. Only 2 cases of TB were detected.
Haemophagocytic lymphohistiocytosis (HLH) is a clinico-pathologic entity caused by increased proliferation
and activation of benign macrophages with haemophagocytosis throughout the reticulo-endothelial system.
Virus-associated HLH is a well-recognised entity. Although majority of parvovirus B19 associated HLH does not
require any specific treatment and carries good prognosis, outcome of children is worse than adults. We report
here a case of HLH associated with acute parvovirus B19 infection in a young healthy patient with underlying
hereditary spherocytosis, with bone marrow findings typical of parvovirus infection. Although this patient
had spontaneous recovery of cell counts, he succumbed due to complication from prolonged ventilation.
Unexpectedly, his immunoglobulin levels were inappropriately normal despite on-going ventilator associated
pneumonia, which reflects inadequate humoral immune response towards infection.
What does this term medical education conjure up? Does it refer to the teaching and learning of medicine and therefore relates to students and the curriculum? Does it refer to the process of teaching and therefore relates to teachers? Perhaps it is both, since teaching and learning go hand in hand.(Copied from article).
In the last three centuries, medicine has focused predominantly on the physical body as the source of disease, placing very little importance on the mind. However, the significance of mind-body interactions in medicine is now increasingly being recognised. True health must include both the physical body and the mind. This article traces our concepts of the relationship between mind and body since primitive times and explores its relevance to the maintenance of health.
Increased consumerism ilfid diversity of economic activities have led to an increase in pressure from the increase and diversification in waste. Environmental stewardship has become essential to reduce the toxicological risk by an active involvement in waste disposal like planning of landfills for ensuring impedance at source. The risks from waste disposal practices in Malaysia are examined along with the essential considerations (or secure sites to prevent environmental hazards 10 health. KEYWORDS: Waste disposal, environmental stewardship, adequacy of disposal sites, collective analysis of considerations.
Initiation of Highly Active Anti-Retroviral Therapy (HAART) depends on clinical or immunological criteria. Clinical criteria include the presence of opportunistic infections, categorized by the WHO as stage 3 and 4. Immunological criteria are based on CD4 cell count. The WHO guidelines have changed frequently. All patients with CD4 cell count less than 200 cells/µl and symptomatic HIV or late disease or severe recurrent HIV illnesses or patients with AIDS or tumor at any CD4 count, should start therapy. WHO guidelines in 2013 recommended initiating HAART at CD4 counts less than 500 cells/µl. HAART is usually initiated when CD4 is less than 200 cell/µl because HIV infected patients present at a late stage. Research on factors responsible for this is sorely needed so that interventions can be targeted at this group.
The aim of the study was to research the use of a simple neural network in diagnosing angina in patients complaining of chest pain. A total of 887 records were extracted from the electronic medical record system (EMR) in Selayang Hospital, Malaysia. Simple neural networks (simple perceptrons) were built and trained using a subset of 470 records with and without pre-processing using principal components analysis (PCA). These were subsequently tested on another subset of 417 records. Average sensitivity of 80.75% (95% CI 79.54%, 81.96%), specificity of 41.64% (95% CI 40.13%, 43.15%), PPV of 46.73% (95% CI 45.20%, 48.26%) and NPV of 77.39% (95% CI 76.11%, 78.67%) were achieved with the simple perceptron. When PCA pre-processing was used, the perceptrons had a sensitivity of 1.43% (95% CI 1.06%, 1.80%), specificity of 98.32% (95% CI 97.92%, 98.72%), PPV of 32.95% (95% CI 31.51%, 34.39%) and NPV of 61.33% (95% CI 59.84%, 62.82%). These results show that it is possible for a simple neural network to have respectable sensitivity and specificity levels for angina.
Euthanasia is one of the most controversial topics of the 21st century after cloning and genetic engineering. Has this issue arisen now due to changes in attitude and perception on life of the modem society? This project was undertaken to study the opinions of 2 selected groups of people and secondly, to highlight the legal, ethical and religious controversies on euthanasia. Two groups comprising medical undergraduates and medical personnel were given a questionnaire pertaining 10 his/her opinion and altitude towards euthanasia. The second part of the project was conducted via interviews. The overall opinion from 399 respondents showed that 67.91% are against the practice of euthanasia. Religion is a powerful force against it as Malaysians in general are God-fearing people. There should be proper guidelines explaining how a doctor should respond to patients or family members of patients who request for euthanasia to be performed. It is not legal in Malaysia, but the court has the inherent power to permit it should a particular case have substantial reasoning and evidence. In conclusion, the level of awareness on euthanasia among medical staff and undergraduates is satisfactory. However, most of them do not approve euthanasia in Malaysia.
Achieving and maintaining good glycaemic control remains an important goal in the management of this common and prevalent disorder. Recent evidence from important megatrials, ACCORD, ADVANCE, VADT, UKPDS-10 year follow-up as well as the STENO-2 follow-up study, have cleared doubts concerning the benefits of targeting good glycaemic control. For the first time, we have the reassurance that macrovascular benefits can be realised from good glycaemic control. The legacy effect of prior good glucose control from the UKPDS-10 year follow-up, reinforces the results seen from the DCCT-EDIC (for Type 1 diabetes). The Intervention Phase of the UKPDS revealed benefits for reduction of microvascular complications, while it was only at the end of the Post-Trial Monitoring Phase where significant improvements in both micro and macrovascular outcomes were seen. The other three Trials assessing the effect of glycaemic control on cardiovascular outcomes, although largely negative for CV benefit, give valuable insight towards appropriate patient characteristics for which aggressive glucose control can and should be instituted. Individualising glycaemic targets, which has been the approach that many clinicians have been practising, has received new impetus albeit with clearer details. Getting to glycaemic goal early in the course of T2DM and Doing to Safely (Avoiding hypoglycaemia)are the key ingredients to successful management. The legacy of the memory of initial good metabolic/glycaemic control is investment in good health with benefits of reductions in both micro and more importantly, macrovascular disease, years later. Multifactorial interventions that include blood pressure, lipid lowering in addition to glucose control in these individuals with the Metabolic Syndrome result in more immediate beneficial additive effects on cardiovascular outcomes.
Antithyroid drugs have been used for more than 50 years for the management of hyperthyroidism. Most patients tolerate treatment well, but some may develop rare life threatening side effects such as agranulocytosis and aplastic anaemia. Clinical experience with the latter condition is extremely limited. We report on a case of carbimazole-induced aplastic anaemia caused by hypocellular bone marrow and associated plasmacytosis in a thyrotoxic patient chronically treated with carbimazole. This resolved after substitution with propylthiouracil. The clinical course was complicated by neutropaenic septicaemia and atrial fibrillation.
Study site: University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia
Patient safety is a serious global healthcare issue. Harm can be caused by a range of errors or adverse events. Therefore, it is vital that the commissioning of a new operating theatre should comply to the highest standard before it is allowed to function. This paper accounts our experience in the commissioning of the University Malaya Medical Centre (UMMC) trauma centre operating theatre(OT) complex in July 2008. We highlighted the problems we faced in adhering to the international standard guidelines. Unanticipated events were handled professionally and solved. With this experience, we hope that the identified problems would provide suggestions for commissioning an operating theatre in the local setting in the future.
MRI can be a distressing and traumatic experience in many patients, especially in those with underlying anxiety and/or claustrophobia. We conducted a study to determine if dexmedetomidine as a sedative agent can alleviate these symptoms. Dexmedetomidine is a potent and highly selective α-2 adrenergic receptor agonist which has sedative and analgesic properties. Eleven adult patients (n=11) with a histroy of anxiety and/or claustrophobia undergoing MRI who expressed their desire for sedation were recruited. Dexmedetomidine was infused at 0.5 to 1.0 μg/kg over 10 minutes prior to scanning. Eight patients (n=8) were able to complete the MRI scan comfortably. The findings suggest that dexmedetomidine provides adequate sedation that can allow patients with anxiety and/or claustrophobia to undergo MRI scanning succesfully in a large poproption of the population with anxiety. This result however is still preliminary and will need to be validated in a more robust clinical study.
We report a 33-year-old Malay lady who presented with fever, tonsillitis and pharyngitis a month after initiation of antithyroid therapy (carbimazole 15 mg tds) for thyrotoxicosis by her general practitioner. She was still clinically and biochemically thyrotoxic but not in thyroid storm. At that time, she was also confirmed to be four weeks pregnant. Her full blood count revealed neutropaenia with an absolute neutrophil count of 0.036 × 109/L. Bone marrow aspirate and trephine were compatible with carbimazole-related agranulocytosis. Carbimazole was discontinued and she was given broad spectrum antibiotics and Granulocyte Colony Stimulating Factor (GCSF), to which she responded. Verapamil was used for symptomatic heart rate control instead of beta-blockers as she had a history of bronchial asthma. The patient subsequently opted for termination of pregnancy after which she was given radioactive iodine I131 (10 mCi) for definitive therapy of her thyrotoxicosis. In conclusion, carbimazole-related agranulocytosis is an important entity to recognise and treat early to prevent morbidity and mortality. Termination of pregnancy was carried out as the treatment given during the episode of agranulocytosis may have negative effects on foetal viability and growth.
Tumour-induced or oncogenic osteomalacia (OOM) is a rare paraneoplastic syndrome characterized by bone pain and muscle weakness. A biochemical profile consisting of normocalcaemia, hypophosphataemia, phosphaturia, increased serum alkaline phosphatase and inappropriately low serum levels of 1, 25-dihydroxyvitamin-D is diagnostic. OOM is usually caused by an osseous or soft-tissue tumour of mesenchymal origin that secretes phosphaturic substances leading to increased urinary phosphate wasting. These tumours are small and slow growing. The diagnosis continues to be easily missed and when eventually made, localization of the tumour can be difficult. We describe the case of a young man who presented with severe generalized pain associated with muscle weakness. He was extensively investigated and eventually diagnosed to have OOM 3 years after initial presentation. Specialized investigations were necessary to localize the offending tumour.
Background:
Prevention of hypothermia in patients undergoing major posterior approach spinal surgery can be difficult, as a
large body surface is exposed to the cold environment of the operating theatre. We compared the efficacy of a
new under-body forced-air warming blanket with that of a resistive heating blanket in preventing hypothermia.
Methods:
Sixty patients undergoing major posterior approach spinal surgery lasting for more than 2 hours were randomly
assigned to warming with a full under-body forced-air warming blanket or three segments of resistive heating
blankets, both set at 42°C. The ambient temperature was kept near 20°C. Nasopharyngeal, rectal and axillary
temperatures were measured at regular intervals. Changes in core temperature (average of nasopharyngeal
and rectal) over time were compared by the independent t-test.
Results:
The characteristics of the patients were comparable. The baseline core temperature was 36.36 ±0.38°C in the
forced-air group and 36.27 ± 0.46°C in the resistive heating group. During the first hour, the core temperature
decreased similarly from baseline in both groups. From 100 minutes after induction until the end of the surgery,
core temperature rose in both groups. At the end of surgery, the core temperature was increased by 0.08
± 0.09°C from baseline in the forced-air group but decreased by 0.40 ±0.04°C from baseline in the resistive
heating group. The difference in the change of the core temperature, at the end of the surgery, between the
two groups is statistically significant (P
Background: The rise in substance-use-related problems among Malaysian adolescents called for a study to
assess the efficacy of an anti-drug educational program to improve the knowledge, attitude and perception
(KAP) of Malaysian students regarding substance use.
Methods: This study involved 573 students from four Malaysian Chinese schools in Malacca. Each student
filled out a Likert-scale mandarin translated questionnaire (KAP-C) on substance use ( Pre-test). Following an
educational program on substance use, the KAP-C questionnaire was given again to the students, immediately
following the program (PT 1), and after a month (PT 2) and two months (PT3) of the programme.
Results: The students showed improvement in knowledge of the types of substance use in PT 1 (p
Tyrosinase is a key enzyme that catalyzes melanogenesis in human skin. It oxidizes tyrosine to L-3,4-dihydroxyphenylalanine (L-DOPA) and subsequently to dopachrome, which further polymerizes to melanin pigments. Therefore finding an effective tyrosinase inhibitor, either from synthetic or natural sources, is not only useful as skin whitening agents in cosmetic application, but also beneficial in treating melanin-related disorders. The present study reports of the optimized and validated results of a cell-based tyrosinase assay using B16F10 murine melanoma cell line, which produces melanin pigments and has been used extensively in antimelanogenesis studies. The optimization studies involved 3 parameters (1) optimal seeding cell number per well for total protein extraction; (2) optimal dopachrome formation from enzymatic reaction between total protein (tyrosinase source) and L-DOPA (substrate); and (3) optimal incubation period after the addition of substrate. The present study demonstrates that using seeding cell number of 2 × 105 cells/well, total protein of 40 μg, L-Dopa of 5 mM,and at an incubation period of 1 hour at 37°C provided the optimal response on cultured melanoma cells. Kojic acid, a standard tyrosinase inhibitor, was used as a positive control in the optimized cell-based tyrosinase assay to validate the usefulness of the assay. CONCLUSION: The use of the mentioned protocol is sensitive to determine changes in melanoma cells as the result of tyrosine inhibitors.